Single nucleotide polymorphisms:

Single nucleotide polymorphisms (SNPs) are DNA sequence variations that occur when a single nucleotide (A, T, C, or G) in the genome sequence is changed. This variation occurs normally approximately once every 100 to 500 bases.

SNPs are the most abundant type of genetic variation in the mammalian genome, with low mutation rate per generation, and they are well suited for automated large-scale genotyping. Genotyping of SNPs is extremely important as SNPs can be associated with different genetic traits, susceptibility to diseases or responses to drug therapies. Therefore SNP genotyping will facilitate numerous association studies of complex genetic traits.

Illumina technologies are used for SNP genotyping studies at MBG Lab. Our facility houses the state-of-the art, high resolution iScan system that enables rapid, sensitive and accurate imaging of Illumina array based genetic analysis products.

SNP detection and genotyping SNP discovery at MBG, include methods such as:

• Screening physically mapped sequence tagged site (STS)
• Mining the expressed sequence tag (ESTs) databases
• Genome re-sequencing for SNP discovery, confirmation and genotyping
  
• SNP microarray that utilizes thousands of characterized SNPs on a microchip
• SNPs representing a selection of conditions and an individual can be screened for them